Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999239 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:26786627G>AN/A show variant in all transcripts   IGV
HGNC symbol DHDDS
Ensembl transcript ID ENST00000360009
Genbank transcript ID NM_024887
UniProt peptide Q86SQ9
alteration type single base exchange
alteration region CDS
DNA changes c.757G>A
cDNA.834G>A
g.27855G>A
AA changes V253M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
frameshift no
known variant Reference ID: rs3816539
databasehomozygous (A/A)heterozygousallele carriers
1000G57411321706
ExAC72851819725482
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3350.031
0.0280.032
(flanking)0.5980.1
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27847wt: 0.45 / mu: 0.60wt: GATGAACCATAGCGT
mu: GATGAACCATAGCAT		 TGAA|ccat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      253EAILQFQMNHSVLQQKARDMYAEE
mutated  all conserved    253EAILQFQMNHSMLQQKARDMYAE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000022426  253EAILQFQMNHSVLQQKARDMYAE
Fcatus  not conserved  ENSFCAG00000012811  253XXXXXXXXXXXXXXQKARDMYAE
Mmusculus  not conserved  ENSMUSG00000012117  253EAILQFQRNHGALQQKARDMYAE
Ggallus  not conserved  ENSGALG00000000385  253EAILRFQMNYNAL-QKARDSYME
Trubripes  not conserved  ENSTRUG00000007224  253EAILRYQLNYKSI-QKARDLHRE
Drerio  not conserved  ENSDARG00000039851  253EAILQFQLSHRSI-QKARELHRE
Dmelanogaster  not conserved  FBgn0029980  253ASILAYQ----------------
Celegans  no alignment  T01G1.4  n/a
Xtropicalis  not conserved  ENSXETG00000012322  255EAILRYQYNYSNI-QKARELHHR
protein features
start (aa)end (aa)featuredetails 
277277CONFLICTV -> E (in Ref. 6; AAH34152).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1005 / 1005
position (AA) of stopcodon in wt / mu AA sequence 335 / 335
position of stopcodon in wt / mu cDNA 1082 / 1082
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 78 / 78
chromosome 1
strand 1
last intron/exon boundary 843
theoretical NMD boundary in CDS 715
length of CDS 1005
coding sequence (CDS) position 757
cDNA position
(for ins/del: last normal base / first normal base)		 834
gDNA position
(for ins/del: last normal base / first normal base)		 27855
chromosomal position
(for ins/del: last normal base / first normal base)		 26786627
original gDNA sequence snippet AGTTCCAGATGAACCATAGCGTGCTTCAGGTAAGAAAGAGT
altered gDNA sequence snippet AGTTCCAGATGAACCATAGCATGCTTCAGGTAAGAAAGAGT
original cDNA sequence snippet AGTTCCAGATGAACCATAGCGTGCTTCAGCAGAAGGCCCGA
altered cDNA sequence snippet AGTTCCAGATGAACCATAGCATGCTTCAGCAGAAGGCCCGA
wildtype AA sequence MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE
TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKEK LQKHGVCIRV
LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL NVCFAYTSRH EISNAVREMA WGVEQGLLDP
SDISESLLDK CLYTNRSPHP DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL
FEAILQFQMN HSVLQQKARD MYAEERKRQQ LERDQATVTE QLLREGLQAS GDAQLRRTRL
HKLSARREER VQGFLQALEL KRADWLARLG TASA*
mutated AA sequence MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE
TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKEK LQKHGVCIRV
LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL NVCFAYTSRH EISNAVREMA WGVEQGLLDP
SDISESLLDK CLYTNRSPHP DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL
FEAILQFQMN HSMLQQKARD MYAEERKRQQ LERDQATVTE QLLREGLQAS GDAQLRRTRL
HKLSARREER VQGFLQALEL KRADWLARLG TASA*
speed 0.95 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project